Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
USP19	10869	broad.mit.edu	37	3	49153200	49153200	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:49153200G>T	uc003cwd.2	-	9	1659	c.1340C>A	c.(1339-1341)cCc>cAc	p.P447H	USP19_uc003cwa.3_Missense_Mutation_p.P255H|USP19_uc003cwb.3_Missense_Mutation_p.P533H|USP19_uc003cvz.4_Missense_Mutation_p.P550H|USP19_uc011bcg.2_Missense_Mutation_p.P538H|USP19_uc003cwc.2_Missense_Mutation_p.P205H|USP19_uc011bch.2_Missense_Mutation_p.P548H|USP19_uc011bci.2_Missense_Mutation_p.P535H	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	447					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCTCCATGGGTGTGCGGGT	0.597000														225			10		1.08611e-07	1.17185e-07	1	1	0
ERCC4	2072	broad.mit.edu	37	16	14041897	14041897	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:14041897A>T	uc002dce.2	+	10	2453	c.2444A>T	c.(2443-2445)gAg>gTg	p.E815V	ERCC4_uc010uyz.1_Missense_Mutation_p.E365V	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	815	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTGTTTGAGGAGCTGAAACAA	0.507000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					70			5		0	0	1	0	0
PKD1L3	342372	broad.mit.edu	37	16	72003881	72003881	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:72003881G>A	uc010vmm.2	-	12	2077	c.2077C>T	c.(2077-2079)Cgc>Tgc	p.R693C		NM_181536	NP_853514			Homo sapiens polycystic kidney disease 1-like 3 (PKD1L3), mRNA.											autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TTGGTCACGCGAAGGAACAGT	0.493000														100			4		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26196504	26196504	+	Splice_Site	SNP	G	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr8:26196504G>T	uc003xeu.3	+	3	509	c.180_splice	c.e3+1	p.E60_splice	DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Splice_Site_p.E70_splice	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAGCAGGAGGTAAGTGTTTA	0.353000														175			4		0.000602214	0.00061727	1	1	0
WDR72	256764	broad.mit.edu	37	15	53997272	53997272	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:53997272A>G	uc002acj.2	-	10	1303	c.1261T>C	c.(1261-1263)Tgt>Cgt	p.C421R	WDR72_uc010bfi.1_Missense_Mutation_p.C421R	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	421										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCACAGCCACATATTAGTTTA	0.393000														96			11		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51072520	51072520	+	Silent	SNP	A	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:51072520A>G	uc001rwv.3	+	7	1131	c.975A>G	c.(973-975)aaA>aaG	p.K325K	DIP2B_uc001rwu.3_Silent_p.K325K|DIP2B_uc009zls.2_Silent_p.K207K	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	325						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCCCTGTGAAAGGAGAGCCTT	0.537000														87			4		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2129290	2129290	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:2129290G>A	uc002con.3	+	27	3251	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.E1049K|TSC2_uc002coo.3_Missense_Mutation_p.E1005K|TSC2_uc010uvv.2_Missense_Mutation_p.E969K|TSC2_uc010uvw.2_Missense_Mutation_p.E957K|TSC2_uc002cop.3_Missense_Mutation_p.E805K	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1049					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCCTGTGGGCGAGTTCCTCCT	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					47			34		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129281737	129281737	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:129281737G>A	uc004evg.3	-	3	695	c.464C>T	c.(463-465)cCt>cTt	p.P155L	AIFM1_uc011mus.2_Missense_Mutation_p.P155L|AIFM1_uc004evh.3_Missense_Mutation_p.P151L|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_5'UTR	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155	FAD-dependent oxidoreductase (By similarity).				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCTGGCCCCAGGATCCCGAGC	0.502000														136			15		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19751610	19751610	+	Silent	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr21:19751610C>T	uc002ykw.3	-	4	553	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	174					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTGGAGTTGCCAGATGACTGG	0.274000														31			3		0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161135123	161135123	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr2:161135123G>T	uc002ubo.3	-	10	1442	c.998C>A	c.(997-999)cCc>cAc	p.P333H	RBMS1_uc002ubn.3_Missense_Mutation_p.P330H|RBMS1_uc002ubi.4_Missense_Mutation_p.P346H|RBMS1_uc002ubm.3_Missense_Mutation_p.P316H|RBMS1_uc002ubp.3_Missense_Mutation_p.P349H	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	333					DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CATTGATGCGGGCTGTAGTGA	0.493000											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			3		0.000602214	0.00061727	1	1	0
GHSR	2693	broad.mit.edu	37	3	172165985	172165985	+	Silent	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:172165985C>T	uc003fib.2	-	0	262	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GHSR_uc011bpv.2_Silent_p.E73E	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	73					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGGTGCGCAGCTCGCGGAAGC	0.652000														99			5		0	0	1	0	0
ATP5E	514	broad.mit.edu	37	20	57605434	57605434	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr20:57605434T>C	uc002yal.3	-	1	199	c.83A>G	c.(82-84)aAg>aGg	p.K28R	SLMO2_uc021wfq.1_Non-coding_Transcript|SLMO2_uc021wfr.1_Non-coding_Transcript	NM_006886	NP_008817	P56381	ATP5E_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit (ATP5E), nuclear gene encoding mitochondrial protein, mRNA.	28					respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			GAATTCTGTCTTCAGTGCATC	0.373000														98			4		0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1254710	1254710	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:1254710T>C	uc001aef.1	-	5	926	c.413A>G	c.(412-414)aAg>aGg	p.K138R	CPSF3L_uc009vjy.1_5'Flank|CPSF3L_uc001aee.1_Missense_Mutation_p.K132R|CPSF3L_uc009vjz.1_Missense_Mutation_p.K132R|CPSF3L_uc010nyj.1_Missense_Mutation_p.K103R|CPSF3L_uc001aeg.1_Missense_Mutation_p.K8R|CPSF3L_uc001aeh.1_Intron|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_Missense_Mutation_p.K50R|CPSF3L_uc001aen.1_3'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	132						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGCCACCACCTTCTTCATGCA	0.602000														51			4		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78672018	78672018	+	Silent	SNP	T	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:78672018T>C	uc003kfy.3	-	8	1982	c.879A>G	c.(877-879)gaA>gaG	p.E293E	HOMER1_uc010jab.3_Missense_Mutation_p.K177R|HOMER1_uc010jac.3_Silent_p.E163E|HOMER1_uc010jad.3_Silent_p.E119E	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	293					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GAATTTCTACTTCCTTCAGAA	0.368000														134			4		0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140073223	140073223	+	Silent	SNP	A	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140073223A>G	uc003lgx.3	+	1	372	c.156A>G	c.(154-156)aaA>aaG	p.K52K	HARS_uc003lgv.3_5'Flank|HARS_uc011czm.2_5'Flank|HARS_uc003lgw.3_5'Flank|HARS_uc011czn.2_5'Flank|HARS_uc011czo.2_5'Flank|HARS_uc011czp.2_5'Flank|HARS_uc011czq.2_5'Flank|HARS2_uc010jfv.1_5'UTR|HARS2_uc011czr.2_Intron|HARS2_uc011czs.2_5'UTR|HARS2_uc011czt.2_Intron|HARS2_uc011czu.2_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	52					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAAGAGAAACCAAATTTTA	0.463000														150			4		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162394348	162394348	+	Silent	SNP	C	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:162394348C>A	uc021zhu.1	-	6	952	c.861G>T	c.(859-861)acG>acT	p.T287T	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Silent_p.T49T|PARK2_uc010kkd.3_Silent_p.T49T|PARK2_uc003qtx.4_Silent_p.T240T|PARK2_uc021zhs.1_Silent_p.T212T|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.T212T|PARK2_uc003qtz.4_Silent_p.T91T|PARK2_uc021zhv.1_Silent_p.T161T|PARK2_uc021zhw.1_Silent_p.T49T|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.T240T|PARK2_uc010kke.1_Silent_p.T240T	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	240	SYT11 binding 2.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGTCTGTGCACGTAATGCAAG	0.448000														84			3		0.00909568	0.00909568	1	1	0
RNF115	27246	broad.mit.edu	37	1	145687066	145687066	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:145687066G>A	uc001eoj.3	+	7	962	c.758G>A	c.(757-759)aGt>aAt	p.S253N		NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Homo sapiens ring finger protein 115 (RNF115), mRNA.	253					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						TTTCACAGCAGTTGTATTGTG	0.438000														22			41		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88476140	88476140	+	Missense_Mutation	SNP	A	C	C	rs143163993		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr10:88476140A>C	uc001kdv.3	+	8	1311	c.1288A>C	c.(1288-1290)Acc>Ccc	p.T430P	LDB3_uc010qml.1_Missense_Mutation_p.T367P|LDB3_uc010qmm.2_Missense_Mutation_p.T435P|LDB3_uc009xsz.3_Missense_Mutation_p.T59P|LDB3_uc001kdu.3_Missense_Mutation_p.T320P|LDB3_uc009xta.2_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	430						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CACTCCCTAcaccccctcccc	0.602000														32			5		0	0	1	0	0
GNS	2799	broad.mit.edu	37	12	65115476	65115476	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:65115476G>A	uc010ssq.2	-	12	1584	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	GNS_uc001ssf.3_Missense_Mutation_p.P384S|GNS_uc001ssg.4_Missense_Mutation_p.P440S|GNS_uc010ssr.2_Missense_Mutation_p.P420S	NM_002076	NP_002067	P15586	GNS_HUMAN	Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA.	440						lysosome	N-acetylglucosamine-6-sulfatase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACACAGTCTGGGAAGCATTGC	0.418000														67			3		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75503149	75503149	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:75503149G>A	uc002azp.4	+	2	3156	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	C15orf39_uc002azq.4_Missense_Mutation_p.E946K|C15orf39_uc002azr.4_3'UTR	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	946										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCAGAGGTGAGCCAGAGAG	0.617000														71			4		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506781	155506781	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:155506781G>C	uc003iod.1	-	4	1858	c.1800C>G	c.(1798-1800)agC>agG	p.S600R	FGA_uc003ioe.1_Missense_Mutation_p.S600R|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	600					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCATTTTATAGCTCTTGCTTT	0.453000														227			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720439	140720439	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140720439A>G	uc003ljk.2	+	0	2086	c.1901A>G	c.(1900-1902)gAc>gGc	p.D634G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D634G	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	636	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCTGGACAGAGACGCG	0.692000														115			5		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716452	23716452	+	Silent	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:23716452C>T	uc002dma.4	-	7	919	c.750G>A	c.(748-750)gcG>gcA	p.A250A	ERN2_uc010bxp.3_Silent_p.A250A|ERN2_uc010bxq.1_Silent_p.A58A	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	202					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCCGCAGGACGCCAGGTGGC	0.642000														320			6		0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956366	99956366	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:99956366C>T	uc022aim.1	+	6	1190	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Missense_Mutation_p.H40Y	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	40	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAACCAAAACACCTCTCAGC	0.537000														116			78		0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24122442	24122442	+	Silent	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:24122442G>A	uc009vqo.1	-	10	1254	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	GALE_uc001bhv.1_Silent_p.A348A|GALE_uc001bhx.1_Silent_p.A348A|GALE_uc001bhz.1_Silent_p.A274A	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	348					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGGGTCCTCAGGCTTGCGTGC	0.627000														72			17		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	123888	123888	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrGL000209.1:123888C>T	uc010yie.2	+	4	697	c.686C>T	c.(685-687)cCt>cTt	p.P229L	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.P226L|KIR2DL2_uc002qum.3_Missense_Mutation_p.P229L	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	229					regulation of immune response	integral to membrane|plasma membrane	receptor activity										AATAGTTGGCCTTCACCCACT	0.488000														34			3		0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33359287	33359287	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:33359287C>T	uc001zhf.4	-	0	799	c.799G>A	c.(799-801)Gga>Aga	p.G267R	FMN1_uc001zhg.2_Missense_Mutation_p.G267R	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	392	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GACTTCTCTCCAGAGACTTCT	0.493000														71			35		0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40970314	40970314	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:40970314T>C	uc002ibo.3	-	6	743	c.608A>G	c.(607-609)aAg>aGg	p.K203R	BECN1_uc010whb.1_Missense_Mutation_p.K116R|BECN1_uc010whc.1_Missense_Mutation_p.K127R|BECN1_uc002ibn.2_Missense_Mutation_p.K203R	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	203					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTGCGGTTCTTTTCCACGTC	0.507000														121			4		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643251	156643251	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:156643251G>A	uc003iov.3	+	9	2314	c.1778G>A	c.(1777-1779)cGt>cAt	p.R593H	GUCY1A3_uc010iqc.2_Missense_Mutation_p.R593H|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R592H|GUCY1A3_uc003iow.3_Missense_Mutation_p.R593H|GUCY1A3_uc003iox.3_Missense_Mutation_p.R593H|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R358H|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R593H|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R358H|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R593H	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	593	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.R593S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAAATGCCCCGTTACTGTCTT	0.423000														188			6		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638778	149638778	+	Silent	SNP	A	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:149638778A>T	uc011mxu.2	+	2	1168	c.858A>T	c.(856-858)gcA>gcT	p.A286A	MAMLD1_uc011mxt.1_Silent_p.A273A|MAMLD1_uc004fee.2_Silent_p.A311A|MAMLD1_uc011mxv.2_Silent_p.A286A|MAMLD1_uc011mxw.2_Silent_p.A238A	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	311					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGTTGGCAGCCAGCAAGC	0.637000														16			46		0	0	1	0	0
FAM186A	121006	broad.mit.edu	37	12	50746922	50746922	+	Silent	SNP	T	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:50746922T>G	uc001rwl.2	-	3	3831	c.3693A>C	c.(3691-3693)ctA>ctC	p.L1231L	FAM186A_uc010smt.1_Silent_p.L1009L	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	Homo sapiens family with sequence similarity 186, member A (FAM186A), mRNA.	1231																	GCTGAAGGGTTAGAGTGATCC	0.632000														106			6		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509852	26509852	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:26509852C>T	uc001bln.4	+	7	758	c.700C>T	c.(700-702)Cga>Tga	p.R234*	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Nonsense_Mutation_p.R234*|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	234	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.R234*(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGACTCCCGACTGCAGAT	0.637000														56			3		0	0	1	0	0
TIMM9	26520	broad.mit.edu	37	14	58878663	58878663	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr14:58878663T>C	uc010aph.3	-	1	216	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TIMM9_uc001xds.3_Missense_Mutation_p.M1V|TIMM9_uc010api.3_Missense_Mutation_p.M1V	NM_012460	NP_036592	Q9Y5J7	TIM9_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 9 homolog (yeast) (TIMM9), nuclear gene encoding mitochondrial protein, mRNA.	1					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			kidney(2)|skin(1)	3						TGTGCAGCCATATTCTTCTGG	0.308000														143			8		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10091506	10091506	+	Silent	SNP	A	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:10091506A>C	uc002mmq.1	-	33	2621	c.2535T>G	c.(2533-2535)ggT>ggG	p.G845G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	845	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCTGTGGCACCCGGTTGCC	0.582000														47			6		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100672306	100672306	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:100672306C>T	uc002bvv.1	-	11	1706	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	ADAMTS17_uc002bvx.1_Missense_Mutation_p.D300N	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	543	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAGTCTCCGTCCACATGCTCC	0.667000											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			5		0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57863498	57863498	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr14:57863498C>T	uc001xcx.4	+	2	954	c.800C>T	c.(799-801)gCc>gTc	p.A267V	NAA30_uc010trk.2_Missense_Mutation_p.A9V|NAA30_uc010aow.3_Non-coding_Transcript	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.	267	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TGTGTAGGTGCCATCGTTTGC	0.413000														203			4		0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531447	43531447	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:43531447C>G	uc002ija.3	-	6	1941	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	PLEKHM1_uc010wjm.2_Missense_Mutation_p.D563H|PLEKHM1_uc002ijb.3_Missense_Mutation_p.D66H|PLEKHM1_uc010wjn.1_Missense_Mutation_p.D540H|PLEKHM1_uc002ijc.3_Missense_Mutation_p.D45H	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	591	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AAGCGCCCATCACTATGGGCT	0.647000														45			13		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000														592			13		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39913558	39913558	+	Silent	SNP	A	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:39913558A>G	uc004den.4	-	12	5062	c.4770T>C	c.(4768-4770)aaT>aaC	p.N1590N	BCOR_uc004dep.4_Silent_p.N1556N|BCOR_uc004deo.4_Silent_p.N1538N|BCOR_uc010nhb.3_Silent_p.N298N|BCOR_uc004dem.4_Silent_p.N1556N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1590					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGTCATCATCATTGCGACCCT	0.438000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							127			4		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18029228	18029228	+	Silent	SNP	T	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr22:18029228T>C	uc010gqw.1	+	15	4179	c.4179T>C	c.(4177-4179)ccT>ccC	p.P1393P	CECR2_uc010gqv.1_Silent_p.P1253P|CECR2_uc002zml.2_Silent_p.P1254P|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1437					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TAAGAGGACCTTTCCAGGAAA	0.433000														126			4		0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787070	135787070	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:135787070T>C	uc003qgi.3	-	6	1015	c.631A>G	c.(631-633)Aaa>Gaa	p.K211E	AHI1_uc003qgh.3_Missense_Mutation_p.K211E|AHI1_uc003qgj.3_Missense_Mutation_p.K211E|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.K211E	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	211						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCTTTCAGTTTCTTTCTTATT	0.348000														153			4		0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25353254	25353254	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:25353254delT	uc003grl.4	+	7	990	c.954delT	c.(952-954)tatfs	p.Y318fs		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	318							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTTCCCCTATTTTTTTGAAT	0.353													---	82	---	---	10	---					
PTPLAD2	401494	broad.mit.edu	37	9	21007046	21007046	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr9:21007046delT	uc010miq.2	-	6	735	c.689delA	c.(688-690)aagfs	p.K230fs	PTPLAD2_uc010mir.1_Frame_Shift_Del_p.K230fs	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TCACATCTTCTTTTTTTTAAT	0.368													---	146	---	---	11	---					
FAM120A	23196	broad.mit.edu	37	9	96233575	96233576	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr9:96233575_96233576insA	uc004atw.3	+	1	652_653	c.627_628insA	c.(625-630)gggaaafs	p.G209fs	FAM120A_uc004atv.3_Frame_Shift_Ins_p.G209fs|FAM120A_uc004atx.3_5'UTR|FAM120A_uc004aty.3_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	209						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCGGAACGGGAAAAGTCTCAC	0.460													---	202	---	---	7	---					
VPS13C	54832	broad.mit.edu	37	15	62243167	62243167	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:62243167delG	uc002agz.3	-	39	4604	c.4513delC	c.(4513-4515)cttfs	p.L1505fs	VPS13C_uc002aha.3_Frame_Shift_Del_p.L1462fs|VPS13C_uc002ahb.2_Frame_Shift_Del_p.L1505fs|VPS13C_uc002ahc.2_Frame_Shift_Del_p.L1462fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1505					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTTCAGAAGGGGTTCGTCA	0.289													---	255	---	---	15	---					
LRFN3	79414	broad.mit.edu	37	19	36430411	36430412	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:36430411_36430412insC	uc002oco.3	+	1	536_537	c.84_85insC	c.(82-87)tgtcccfs	p.C28fs		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	28	LRRNT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGCCCATGTCCCCGCCGCTG	0.723													---	69	---	---	9	---					
DMWD	1762	broad.mit.edu	37	19	46289153	46289154	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:46289153_46289154insG	uc002pdj.1	-	2	1646_1647	c.1600_1601insC	c.(1600-1602)cggfs	p.R534fs	DMWD_uc021uwc.1_Frame_Shift_Ins_p.T187fs|DMWD_uc010eko.1_Frame_Shift_Ins_p.R219fs	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	534					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTCTGCCCCCCGGTCCCGCCGC	0.713													---	4	---	---	2	---					
